Genetic.jpegGenetic Disorders

Mini Project: Working with a partner (one from Biology and one from Health, if possible), choose one disease and, based on the pattern of inheritance, draw a Punnett square and a pedigree and write your predictions about how this disease passes from generation to generation.



The human genome contains an estimated total of 20,000-25,000 genes that serve as blueprints for building all of our proteins (International Human Genome Sequencing Consortium, 2004). In single-gene diseases, a mutation in just one of these genes is responsible for disease. Single-gene diseases run in families and can be dominant or recessive, and autosomal or sex-linked. Pedigree analyses of large families with many affected members are very useful for determining the inheritance pattern of single-gene diseases.

Disease
Type of Inheritance
Gene Responsible
Phenylketonuria (PKU)
Autosomal recessive
Phenylalanine hydroxylase (PAH)
Cystic fibrosis
Autosomal recessive
Cystic fibrosis conductance transmembrane regulator (CFTR)
Sickle-cell anemia
Autosomal recessive
Beta hemoglobin (HBB)
Albinism, oculocutaneous, type II
Autosomal recessive
Oculocutaneous albinism II (OCA2)
Huntington's disease
Autosomal dominant
Huntingtin (HTT)
Myotonic dystrophy type 1
Autosomal dominant
Dystrophia myotonica-protein kinase (DMPK)
Hypercholesterolemia, autosomal dominant, type B
Autosomal dominant
Low-density lipoprotein receptor (LDLR); apolipoprotein B (APOB)
Neurofibromatosis, type 1
Autosomal dominant
Neurofibromin 1 (NF1)
Polycystic kidney disease 1 and 2
Autosomal dominant
Polycystic kidney disease 1 (PKD1) and polycystic kidney disease 2 (PKD2), respectively
Hemophilia A
X-linked recessive
Coagulation factor VIII (F8)
Muscular dystrophy, Duchenne type
X-linked recessive
Dystrophin (DMD)
Hypophosphatemic rickets, X-linked dominant
X-linked dominant
Phosphate-regulating endopeptidase homologue, X-linked (PHEX)
Rett's syndrome
X-linked dominant
Methyl-CpG-binding protein 2 (MECP2)
Spermatogenic failure, nonobstructive, Y-linked
Y-linked
Ubiquitin-specific peptidase 9Y, Y-linked (USP9Y)
Source: http://www.nature.com/scitable/topicpage/rare-genetic-disorders-learning-about-genetic-disease-979

Homework: 1) Check this out: The top 10 most unusual genetic disorders
2) RESPECTFULLY comment on this blog to this post:
"Imagine someone in your family has one of these disorders. How would you handle it?"